Professional Documents
Culture Documents
What Is The Official Name of The APP Gene?: Genes
What Is The Official Name of The APP Gene?: Genes
APP
On this page:
Name
Normal function
Gene families
Genetic changes
Gene location
Additional information
Other names
About genes
Glossary definitions
(neurons) in the brain both before and after birth. The sAPP peptide may also control the
function of certain other proteins by turning off (inhibiting) their activity. Amyloid peptide
is likely involved in the ability of neurons to change and adapt over time (plasticity). Other
functions of sAPP and amyloid peptide are under investigation.
acid aspartic acid is switched with the amino acid asparagine at position 23 (written as
Asp23Asn or D23N). The Piedmont type of hereditary cerebral amyloid angiopathy is
caused by the replacement of the amino acid leucine at position 34 with the amino
acid valine (written as Leu34Val or L34V).
The result of all of these mutations is the production of an amyloid peptide that is
more prone to cluster together (aggregate) than the normal peptide. The aggregated
protein forms amyloid deposits known as plaques that accumulate in the blood vessels
of the brain. The amyloid plaques replace the muscle fibers and elastic fibers that give
blood vessels flexibility, causing the blood vessels to become weak and prone to
breakage. In the brain, such a break causes bleeding (hemorrhagic stroke), which can
lead to brain damage and dementia. Amyloid plaques in specific parts of the brain can
interfere with brain function, leading to seizures, movement problems, and other
neurological features in some people with hereditary cerebral amyloid angiopathy.
The APP gene is located on the long (q) arm of chromosome 21 at position 21.3.
More precisely, the APP gene is located from base pair 25,880,549 to base pair 26,171,127 on
chromosome 21.
See How do geneticists indicate the location of a gene? in the Handbook.
Gene Reviews
- Clinical summary
You may also be interested in these resources, which are designed for genetics professionals
and researchers.
PubMed
OMIM
- Recent literature
- Genetic disorder catalog
What other names do people use for the APP gene or gene
products?
A4_HUMAN
AAA
ABETA
ABPP
AD1
amyloid beta-peptide
APPI
CVAP
PN2
PN-II
protease nexin 2
protease nexin-II